Identification and characterization of extrachromosomal circular DNA in maternal plasma.
Proc Natl Acad Sci U S A
; 117(3): 1658-1665, 2020 01 21.
Article
in En
| MEDLINE
| ID: mdl-31900366
ABSTRACT
We explored the presence of extrachromosomal circular DNA (eccDNA) in the plasma of pregnant women. Through sequencing following either restriction enzyme or Tn5 transposase treatment, we identified eccDNA molecules in the plasma of pregnant women. These eccDNA molecules showed bimodal size distributions peaking at â¼202 and â¼338 bp with distinct 10-bp periodicity observed throughout the size ranges within both peaks, suggestive of their nucleosomal origin. Also, the predominance of the 338-bp peak of eccDNA indicated that eccDNA had a larger size distribution than linear DNA in human plasma. Moreover, eccDNA of fetal origin were shorter than the maternal eccDNA. Genomic annotation of the overall population of eccDNA molecules revealed a preference of these molecules to be generated from 5'-untranslated regions (5'-UTRs), exonic regions, and CpG island regions. Two sets of trinucleotide repeat motifs flanking the junctional sites of eccDNA supported multiple possible models for eccDNA generation. This work highlights the topologic analysis of plasma DNA, which is an emerging direction for circulating nucleic acid research and applications.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Plasma
/
DNA, Circular
/
Cell-Free Nucleic Acids
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Asia
Language:
En
Journal:
Proc Natl Acad Sci U S A
Year:
2020
Document type:
Article
Affiliation country:
China